Karyotyping and prenatal diagnosis of 47,XX,+?8[67]/46,XX [13] Mosaicism: case report and literature review.

ABSTRACT: BACKGROUND:Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytogenetic diagnoses were performed to give her prenatal diagnostic information. This report also provides more knowledge about trisomy 8 mosaicism and the prenatal diagnostic for clinicians. CASE PRESENTATION:In this present study, we reported one case of pregnancy woman with trisomy 8 mosaicism. Noninvasive prenatal testing prompted an abnormal Z-score, but further three dimension color ultrasound result suggested a single live fetus with no abnormality. The phenotypic of the pregnant woman was normal. Based on our results, there were no abnormal initial myeloid cells (

SUBMITTER: Sun S 

PROVIDER: S-EPMC6925423 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature